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A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Among authors: kosugi s. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C, Iida A, Kosugi S, Momozawa Y, Terao C, Ishikawa K, Okubo M, Hachiya Y, Nishida H, Nakamura K, Miyata R, Murakami C, Takahashi K, Hoshino K, Sakamoto H, Ohta S, Kubota M, Takeshita E, Ishiyama A, Nakagawa E, Sasaki M, Kato M, Matsumoto N, Kamatani Y, Kubo M, Takahashi Y, Natsume J, Inoue K, Goto YI. Abe-Hatano C, et al. Among authors: kosugi s. Am J Med Genet A. 2021 May;185(5):1468-1480. doi: 10.1002/ajmg.a.62138. Epub 2021 Feb 24. Am J Med Genet A. 2021. PMID: 33624935 Free PMC article.
Endogenization and excision of human herpesvirus 6 in human genomes.
Liu X, Kosugi S, Koide R, Kawamura Y, Ito J, Miura H, Matoba N, Matsuzaki M, Fujita M, Kamada AJ, Nakagawa H, Tamiya G, Matsuda K, Murakami Y, Kubo M, Aswad A, Sato K, Momozawa Y, Ohashi J, Terao C, Yoshikawa T, Parrish NF, Kamatani Y. Liu X, et al. Among authors: kosugi s. PLoS Genet. 2020 Aug 10;16(8):e1008915. doi: 10.1371/journal.pgen.1008915. eCollection 2020 Aug. PLoS Genet. 2020. PMID: 32776928 Free PMC article.
tappAS: a comprehensive computational framework for the analysis of the functional impact of differential splicing.
de la Fuente L, Arzalluz-Luque Á, Tardáguila M, Del Risco H, Martí C, Tarazona S, Salguero P, Scott R, Lerma A, Alastrue-Agudo A, Bonilla P, Newman JRB, Kosugi S, McIntyre LM, Moreno-Manzano V, Conesa A. de la Fuente L, et al. Among authors: kosugi s. Genome Biol. 2020 May 18;21(1):119. doi: 10.1186/s13059-020-02028-w. Genome Biol. 2020. PMID: 32423416 Free PMC article.
Sequencing and comparative analyses of the genomes of zoysiagrasses.
Tanaka H, Hirakawa H, Kosugi S, Nakayama S, Ono A, Watanabe A, Hashiguchi M, Gondo T, Ishigaki G, Muguerza M, Shimizu K, Sawamura N, Inoue T, Shigeki Y, Ohno N, Tabata S, Akashi R, Sato S. Tanaka H, et al. Among authors: kosugi s. DNA Res. 2016 Apr;23(2):171-80. doi: 10.1093/dnares/dsw006. Epub 2016 Mar 14. DNA Res. 2016. PMID: 26975196 Free PMC article.
Dissection of the octoploid strawberry genome by deep sequencing of the genomes of Fragaria species.
Hirakawa H, Shirasawa K, Kosugi S, Tashiro K, Nakayama S, Yamada M, Kohara M, Watanabe A, Kishida Y, Fujishiro T, Tsuruoka H, Minami C, Sasamoto S, Kato M, Nanri K, Komaki A, Yanagi T, Guoxin Q, Maeda F, Ishikawa M, Kuhara S, Sato S, Tabata S, Isobe SN. Hirakawa H, et al. Among authors: kosugi s. DNA Res. 2014;21(2):169-81. doi: 10.1093/dnares/dst049. Epub 2013 Nov 26. DNA Res. 2014. PMID: 24282021 Free PMC article.
Sequence analysis of the genome of carnation (Dianthus caryophyllus L.).
Yagi M, Kosugi S, Hirakawa H, Ohmiya A, Tanase K, Harada T, Kishimoto K, Nakayama M, Ichimura K, Onozaki T, Yamaguchi H, Sasaki N, Miyahara T, Nishizaki Y, Ozeki Y, Nakamura N, Suzuki T, Tanaka Y, Sato S, Shirasawa K, Isobe S, Miyamura Y, Watanabe A, Nakayama S, Kishida Y, Kohara M, Tabata S. Yagi M, et al. Among authors: kosugi s. DNA Res. 2014 Jun;21(3):231-41. doi: 10.1093/dnares/dst053. Epub 2013 Dec 17. DNA Res. 2014. PMID: 24344172 Free PMC article.
634 results